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Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Blasi P, Palmerio F, Caldarola S, Rizzo C, Carrozzo R, Gibson KM, Novelletto A, Deodato F, Cappa M, Dioni-Vici C, Malaspina P. Blasi P, et al. Among authors: malaspina p. Clin Genet. 2006 Mar;69(3):294-6. doi: 10.1111/j.1399-0004.2006.00579.x. Clin Genet. 2006. PMID: 16542398 No abstract available.
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G, Crutchfield SR, Gibson KM. Di Rosa G, et al. Among authors: malaspina p. J Inherit Metab Dis. 2009 Dec;32 Suppl 1(Suppl 1):S201-5. doi: 10.1007/s10545-009-1154-4. Epub 2009 May 30. J Inherit Metab Dis. 2009. PMID: 19484191 Free PMC article.
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Menduti G, Biamino E, Vittorini R, Vesco S, Puccinelli MP, Porta F, Capo C, Leo S, Ciminelli BM, Iacovelli F, Spada M, Falconi M, Malaspina P, Rossi L. Menduti G, et al. Among authors: malaspina p. Mol Genet Metab. 2018 Jul;124(3):210-215. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2. Mol Genet Metab. 2018. PMID: 29895405
86 results